Variant report

Variant	nsv464393
Chromosome Location	chr7:16362378-16397352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16371339..16372978-chr7:16382400..16384507,2	K562	blood:
2	chr7:16361874..16363592-chr7:16364507..16366476,2	K562	blood:
3	chr7:16355408..16358313-chr7:16359954..16363461,3	K562	blood:
4	chr7:16371339..16372978-chr7:16382400..16384507,2	K562	blood:
5	chr7:16364478..16366414-chr7:16372381..16373982,2	K562	blood:
6	chr7:16361874..16363592-chr7:16364507..16366476,2	K562	blood:
7	chr7:16348138..16350804-chr7:16362128..16364167,2	K562	blood:
8	chr7:16361901..16363592-chr7:16364009..16366007,2	K562	blood:
9	chr7:16375946..16378002-chr7:16389862..16391543,2	MCF-7	breast:
10	chr7:16374992..16378303-chr7:16378786..16381334,3	K562	blood:
11	chr7:16347978..16350861-chr7:16364873..16367398,2	K562	blood:
12	chr7:16375946..16378002-chr7:16389862..16391543,2	MCF-7	breast:
13	chr7:16382268..16383861-chr7:16437645..16440357,2	K562	blood:
14	chr7:16358608..16360256-chr7:16374793..16376621,2	K562	blood:
15	chr7:16374992..16378303-chr7:16378786..16381334,3	K562	blood:
16	chr7:16355252..16356944-chr7:16359954..16363461,3	K562	blood:
17	chr7:16361901..16363592-chr7:16364009..16366007,2	K562	blood:
18	chr7:16381261..16383873-chr7:16387372..16389637,2	K562	blood:
19	chr7:16364478..16366414-chr7:16372381..16373982,2	K562	blood:
20	chr7:16394955..16400745-chr7:16401367..16408404,9	K562	blood:
21	chr7:16381261..16383873-chr7:16387372..16389637,2	K562	blood:

No data

Extended variants
information (count: 1547 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1547 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10234751	chr7:16362378-16362379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs66924562	chr7:16362393-16362394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182652600	chr7:16362402-16362403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568250221	chr7:16362407-16362408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375972736	chr7:16362408-16362409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535337711	chr7:16362410-16362411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146448951	chr7:16362422-16362423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201699220	chr7:16362428-16362429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560022514	chr7:16362442-16362443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575836158	chr7:16362467-16362468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546290691	chr7:16362508-16362509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369169674	chr7:16362529-16362530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187340482	chr7:16362610-16362611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191794740	chr7:16362655-16362656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11973525	chr7:16362656-16362657	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562290355	chr7:16362688-16362689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576847895	chr7:16362737-16362738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546101481	chr7:16362761-16362762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563035752	chr7:16362765-16362766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562723396	chr7:16362784-16362785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143399651	chr7:16362801-16362802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75551405	chr7:16362823-16362824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78734865	chr7:16362878-16362879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10251140	chr7:16362975-16362976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184379737	chr7:16363005-16363006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528029570	chr7:16363018-16363019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546573601	chr7:16363020-16363021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188448937	chr7:16363082-16363083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568304218	chr7:16363084-16363085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75425962	chr7:16363102-16363103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376574865	chr7:16363107-16363108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550815773	chr7:16363115-16363116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569038644	chr7:16363132-16363133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372579528	chr7:16363244-16363245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369355960	chr7:16363327-16363328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12699780	chr7:16363443-16363444	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs16878716	chr7:16363446-16363447	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573282952	chr7:16363452-16363453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377165928	chr7:16363453-16363454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533976600	chr7:16363454-16363455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555714381	chr7:16363460-16363461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527916974	chr7:16363510-16363511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574283085	chr7:16363528-16363529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544477648	chr7:16363529-16363530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs757523	chr7:16363541-16363542	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs76250200	chr7:16363542-16363543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545498530	chr7:16363554-16363555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564074807	chr7:16363557-16363558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs757522	chr7:16363609-16363610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs193228311	chr7:16363641-16363642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Autism	20808228	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16357200-16372600	Weak transcription	K562	blood
2	chr7:16359600-16373600	Weak transcription	Gastric	stomach
3	chr7:16362600-16363800	Enhancers	Fetal Heart	heart
4	chr7:16368800-16369200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:16370400-16373600	Weak transcription	Aorta	Aorta
6	chr7:16372600-16373600	ZNF genes & repeats	K562	blood
7	chr7:16373200-16384400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:16373600-16373800	ZNF genes & repeats	Aorta	Aorta
9	chr7:16373600-16374200	ZNF genes & repeats	Gastric	stomach
10	chr7:16374000-16375400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:16375400-16375800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:16375400-16376800	Enhancers	Primary T cells from cord blood	blood
13	chr7:16375800-16376400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:16375800-16376600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:16378600-16381200	Weak transcription	K562	blood
16	chr7:16379800-16380400	Enhancers	HUVEC	blood vessel
17	chr7:16382600-16383000	Enhancers	Primary T cells from cord blood	blood
18	chr7:16383400-16383600	ZNF genes & repeats	K562	blood
19	chr7:16384000-16385000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:16384400-16385000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:16384600-16385000	Enhancers	Stomach Mucosa	stomach
22	chr7:16384800-16385400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr7:16384800-16388000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:16385000-16385200	Weak transcription	HMEC	breast
25	chr7:16385000-16385400	Weak transcription	Stomach Mucosa	stomach
26	chr7:16385000-16385600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:16385000-16387200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:16385000-16388400	Enhancers	HSMM	muscle
29	chr7:16385200-16385400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:16385200-16386400	Enhancers	Osteobl	bone
31	chr7:16385200-16387600	Enhancers	HMEC	breast
32	chr7:16385200-16388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:16385400-16385600	Enhancers	Stomach Mucosa	stomach
34	chr7:16385400-16385800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:16385400-16386200	Enhancers	NH-A	brain
36	chr7:16385400-16388200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:16385600-16386400	Weak transcription	Stomach Mucosa	stomach
38	chr7:16385600-16386800	Enhancers	NHLF	lung
39	chr7:16385600-16387400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:16385600-16387600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr7:16385600-16387800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:16385600-16387800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:16385600-16387800	Enhancers	HSMMtube	muscle
44	chr7:16385600-16388000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:16385600-16388000	Enhancers	NHDF-Ad	bronchial
46	chr7:16385600-16388200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:16385800-16386200	Enhancers	Fetal Heart	heart
48	chr7:16385800-16386800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr7:16385800-16386800	Enhancers	NHEK	skin
50	chr7:16385800-16387600	Enhancers	Rectal Mucosa Donor 31	rectum

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